{
  "id": 18788,
  "label": "achromatopsia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018852",
  "properties": {
    "xrefs": [
      "DOID:13911",
      "GARD:0015015",
      "ICD10CM:H53.51",
      "ICD9:368.54",
      "MEDGEN:57751",
      "MedDRA:10000454",
      "NCIT:C84528",
      "Orphanet:49382",
      "SCTID:102450007",
      "UMLS:C0152200"
    ],
    "synonyms": [
      "ACHM",
      "Pingelapese blindness",
      "Rod monochromacy",
      "Rod monochromatism",
      "achromatopsia",
      "complete or incomplete color blindness",
      "complete or incomplete colour blindness",
      "total color blindness",
      "total colour blindness"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 3891,
      "label": "color vision disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20325
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13399",
          "ICD10CM:H53.5",
          "ICD9:368.5",
          "ICD9:368.59",
          "MEDGEN:1826147",
          "NCIT:C3891",
          "Orphanet:98658",
          "SCTID:193683001",
          "UMLS:C5681659"
        ],
        "synonyms": [
          "blindness color",
          "blindness colour",
          "color blindness",
          "color vision defects",
          "color vision deficiency",
          "color-vision disease",
          "colour vision defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "The absence of or defect in the perception of colors."
      },
      "child_count": 5,
      "reference_id": "MONDO:0001703"
    },
    {
      "id": 6979,
      "label": "retinal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5679",
          "EFO:0003839",
          "HGNC:8002",
          "ICD9:362.89",
          "ICD9:362.9",
          "MEDGEN:11209",
          "MESH:D012164",
          "NCIT:C26875",
          "NCIT:C62601",
          "SCTID:29555009",
          "UMLS:C0035309"
        ],
        "synonyms": [
          "eye disease of retina",
          "retina eye disease",
          "retinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any disease or disorder of the retina."
      },
      "child_count": 64,
      "reference_id": "MONDO:0005283"
    }
  ],
  "children": [
    {
      "id": 10258,
      "label": "achromatopsia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18788,
        24812
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110007",
          "GARD:0009649",
          "MEDGEN:387867",
          "MESH:C536128",
          "NCIT:C168757",
          "OMIM:216900",
          "UMLS:C1857618"
        ],
        "synonyms": [
          "ACHM2",
          "CNGA3 achromatopsia",
          "RMCH2",
          "achromatopsia 2",
          "achromatopsia caused by mutation in CNGA3",
          "achromatopsia type 2",
          "rod monochromacy 2",
          "rod monochromatism 2",
          "Rod monochromacy 2",
          "Rod monochromatism 2",
          "colorblindness, total"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009003"
    },
    {
      "id": 11078,
      "label": "achromatopsia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18788,
        24173
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110008",
          "GARD:0009650",
          "MEDGEN:340413",
          "OMIM:262300",
          "UMLS:C1849792"
        ],
        "synonyms": [
          "ACHM3",
          "CNGB3 achromatopsia",
          "achromatopsia 3",
          "achromatopsia caused by mutation in CNGB3",
          "achromatopsia type 3",
          "ACHM1 (formerly)",
          "ACHM1, formerly",
          "RMCH1 (formerly)",
          "Rod monochromacy 1 (formerly)",
          "Rod monochromatism 1 (formerly)",
          "achromatopsia with myopia",
          "rod monochromacy 1, formerly",
          "rod monochromatism 1, formerly",
          "total colorblindness with myopia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009875"
    },
    {
      "id": 11717,
      "label": "blue cone monochromacy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18788,
        20040,
        20388
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050679",
          "GARD:0000917",
          "MEDGEN:87386",
          "MESH:C536238",
          "OMIM:303700",
          "Orphanet:16",
          "SCTID:24704003",
          "UMLS:C0339537"
        ],
        "synonyms": [
          "S cone monochromacy",
          "S cone monochromatism",
          "X-linked incomplete achromatopsia",
          "atypical X-linked achromatopsia",
          "blue cone monochromacy",
          "blue cone monochromacy, X-linked recessive",
          "blue cone monochromatism",
          "color blindness, blue monocone monochromatic type",
          "colour blindness, blue monocone monochromatic type",
          "BCM",
          "CBBM",
          "X-chromosome-linked achromatopsia",
          "X-linked achromatopsia incomplete",
          "achromatopsia incomplete X-linked",
          "color blindness blue mono cone monochromatic type",
          "colorblindness, blue-Mono-cone-monochromatic type",
          "colour blindness blue mono cone monochromatic type",
          "cone dystrophy 5, X-linked",
          "incomplete achromatopsia X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010563"
    },
    {
      "id": 13449,
      "label": "achromatopsia 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18788,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081025",
          "GARD:0010648",
          "MESH:C566483",
          "OMIM:610024"
        ],
        "synonyms": [
          "ACHM6",
          "RCD3A",
          "retinal cone dystrophy 3A",
          "retinal cone dystrophy type 3A"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any achromatopsia caused by a mutation in the PDE6H gene, characterized by incomplete loss of color vision, with a red-green color vision defect and normal or near-normal blue-yellow vision. Reduced visual acuity is also present, but not progressive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012398"
    },
    {
      "id": 14496,
      "label": "achromatopsia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18788,
        24981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110010",
          "GARD:0015723",
          "MEDGEN:330669",
          "MESH:C564206",
          "OMIM:613856",
          "UMLS:C1841721"
        ],
        "synonyms": [
          "ACHM4",
          "GNAT2 achromatopsia",
          "achromatopsia 4",
          "achromatopsia caused by mutation in GNAT2",
          "achromatopsia type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013465"
    },
    {
      "id": 15672,
      "label": "achromatopsia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18788,
        24174
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110009",
          "GARD:0016129",
          "MEDGEN:904646",
          "OMIM:616517",
          "UMLS:C4225297"
        ],
        "synonyms": [
          "ACHM7",
          "ATF6 achromatopsia",
          "achromatopsia 7",
          "achromatopsia caused by mutation in ATF6",
          "achromatopsia type 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014677"
    }
  ],
  "roots": [
    {
      "id": 3891,
      "label": "color vision disorder"
    },
    {
      "id": 6979,
      "label": "retinal disorder"
    }
  ]
}